U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Retinitis pigmentosa 95(RP95)

MedGen UID:
1824017
Concept ID:
C5774244
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 95; RP95
 
Gene (location): RAX2 (19p13.3)
 
Monarch Initiative: MONDO:0859308
OMIM®: 620102

Definition

Retinitis pigmentosa-95 (RP95) is characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Patients experience night blindness, and visual fields are restricted to approximately 10 degrees, with visual acuity ranging from normal to hand movement only. Age at onset of symptoms varies from childhood to the fifth decade of life (Van de Sompele et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
Finding

Professional guidelines

PubMed

Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL
Indian J Ophthalmol 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. PMID: 35791130Free PMC Article
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Solinís MÁ, del Pozo-Rodríguez A, Apaolaza PS, Rodríguez-Gascón A
Eur J Pharm Biopharm 2015 Sep;95(Pt B):331-42. Epub 2014 Dec 20 doi: 10.1016/j.ejpb.2014.12.022. PMID: 25536112

Recent clinical studies

Etiology

Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

Diagnosis

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

Therapy

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Solinís MÁ, del Pozo-Rodríguez A, Apaolaza PS, Rodríguez-Gascón A
Eur J Pharm Biopharm 2015 Sep;95(Pt B):331-42. Epub 2014 Dec 20 doi: 10.1016/j.ejpb.2014.12.022. PMID: 25536112

Prognosis

He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Fragiotta S, Rossi T, Carnevale C, Cutini A, Tricarico S, Casillo L, Scuderi G, Vingolo EM
Graefes Arch Clin Exp Ophthalmol 2019 Oct;257(10):2137-2146. Epub 2019 Jul 19 doi: 10.1007/s00417-019-04418-8. PMID: 31324966

Clinical prediction guides

Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD
Invest Ophthalmol Vis Sci 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077. PMID: 28863407

Recent systematic reviews

Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB
Surv Ophthalmol 2024 May-Jun;69(3):411-417. Epub 2023 Dec 1 doi: 10.1016/j.survophthal.2023.11.010. PMID: 38042377
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...